"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "CYP27B1"[g - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1007304	NM_000785.4(CYP27B1):c.1376G>A (p.Arg459His)	CYP27B1 (R459H)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +1 more	GLikely pathogenic
Select item 2627673	NM_000785.4(CYP27B1):c.779T>G (p.Met260Arg)	CYP27B1 (M260R)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 1A +1 more	GUncertain significance